Browsing by Author "Castro, Gabriela"

Now showing items 1-2 of 2

    • Clinical follow up of Chilean patients with tyrosinemia type 1 treated with 2-(2-nitro-4-trifl uoromethylbenzoyl)- ... 
      Raimann, Erna; Farías Cornejo, Verónica; Arias, Carolina; Cabello, Juan Francisco; Castro, Gabriela; Fernández, Eloina; de la Parra, Alicia (2012)
      Background: Tyrosinemia type I is an inborn error of metabolism due to defi ciency of fumarilacetoacetase. Acute presentation is with liver failure, hypophosphatemic rickets and peripheral neuropathy. Chronic presentation ...
    • Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey 
      Poloni, Soraia; Dos Santos, Bruna Bento; Chiesa, Ana; Specola, Norma; Pereyra, Marcela; Saborío Rocafort, Manuel; Salazar, María Florencia; Leal Witt, María Jesús; Castro, Gabriela; Peñaloza, Felipe; Palma Wong, Sunling; Badilla Porras, Ramsés; Ortiz Paranza, Lourdes; Sanabria, Marta Cristina; Vela Amieva, Marcela; Morales, Marco; Caro Naranjo, Amanda Rocío; Mahfoud, Antonieta; Colmenares, Ana Rosa; Lemes, Aida; Sotillo Lindo, José Fernando; Pérez, Ceila; Martínez Rey, Laritza; Zayas Torriente, Georgina María; Farret Refosco, Lilia; Doederlein Schwartz, Ida Vanessa; Cornejo Espinoza, Verónica (MDPI, 2021)
      This study aimed to describe the current practices in the diagnosis and dietary management of phenylketonuria (PKU) in Latin America, as well as the main barriers to treatment. We developed a 44-item online survey aimed ...